ANDRESA DE SANTI RODRIGUES
Índice h a partir de 2011
7
Projetos de Pesquisa
Unidades Organizacionais
Instituto Central, Hospital das Clínicas, Faculdade de Medicina
LIM/42 - Laboratório de Hormônios e Genética Molecular, Hospital das Clínicas, Faculdade de Medicina
LIM/42 - Laboratório de Hormônios e Genética Molecular, Hospital das Clínicas, Faculdade de Medicina
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conferenceObject Twenty Years Experience in Congenital Adrenal Hyperplasia: Clinical, Hormonal and Molecular Characteristics in a Large Cohort(2015) MIRANDA, M.; CARVALHO, D.; GOMES, L.; MADUREIRA, G.; RODRIGUES, A.; MENDONCA, B.; BACHEGA, T.conferenceObject The pre- and postnatal influence of androgens in the psychosexual development of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency(2023) BATISTA, Rafael Loch; INACIO, Marlene; MADUREIRA, Guiomar; MIRANDA, Mirela; GOMES, Larissa; RODRIGUES, Andresa; FUNARI, Mariana; BACHEGA, Tania; MENDONCA, Berenice Bilharinho- Neonatal 17-hydroxyprogesterone levels adjusted according to age at sample collection and birthweight improve the efficacy of congenital adrenal hyperplasia newborn screening(2017) HAYASHI, Giselle Y.; CARVALHO, Daniel F.; MIRANDA, Mirela C. de; FAURE, Claudia; VALLEJOS, Carla; BRITO, Vinicius N.; RODRIGUES, Andresa De Santi; MADUREIRA, Guiomar; MENDONCA, Berenice B.; BACHEGA, Tania A. S. S.IntroductionThe primary concern related to congenital adrenal hyperplasia (CAH) newborn screening (NBS) is the high rate of false-positive results (FPR) associated with prematurity; false-negative results (FNR) can also occur due to precocious sample collection. ObjectiveTo determine the neonatal 17-hydroxyprogesterone (N17OHP) normal range in newborns in Sao Paulo using different references according to age and birthweight (BW) and to establish the optimal NBS cut-off levels. MethodsNeonatal 17-hydroxyprogesterone levels from 271 810 newborns (NBs) according to sample collection time (G1: 48-<72 h and G2: 72 h) and BW (1500 g, 1501-2000 g, 2001-2500 and >2500 g) were evaluated. N17OHP was measured by an fluoroimmunoassay, and serum 17OHP was measured by liquid chromatography-mass spectrometry. Affected and asymptomatic NBs with persistently increased 17OHP levels were submitted to CYP21A2-sequencing. ResultsNeonatal 17-hydroxyprogesterone levels in G1 were lower than G2 in all BW groups (P < 0001). The FPR rate in G1/G2 was 02% using the 998th and 05% using the 995th percentile. The 998th percentile N17OHP value was the best cut-off for distinguishing between unaffected and affected NBs. Forty-four salt wasters, and five simple virilisers were diagnosed; N17OHP levels ranged from 933 to 22098 nmol/l, and no affected neonates with FNR were identified. The positive predictive value in G1 and G2 using the 998th percentile was 56% and 141%, respectively, and 23% and 7%, respectively, using the 995th percentile. Molecular tests identified two NBs with the nonclassical form among the 29 FPR. ConclusionNeonatal 17-hydroxyprogesterone levels adjusted to sample collection age and birthweight reduced the FPR, and the use of N17OHP values based upon the 998th percentile improved the NBS efficacy.
conferenceObject Twenty Years Experience in Congenital Adrenal Hyperplasia: Clinical, Hormonal and Molecular Characteristics in a Large Cohort(2016) MIRANDA, Mirela; CARVALHO, Daniel; GOMES, Larissa; MADUREIRA, Guiomar; MARCONDES, Jose; BILLERBECK, Ana Elisa; RODRIGUES, Andressa; PRESTI, Paula; KUPERMAN, Hilton; DAMIANI, Durval; MEDONCA, Berenice; BACHEGA, TaniaconferenceObject Congenital Adrenal Hyperplasia Newborn Screening: Improving the Effectiveness of the Neonatal 17OH-Progesterone and Serum Confirmatory Tests(2016) CARVALHO, Daniel; HAYASHI, Giselle; MIRANDA, Mirela; VALASSI, Helena; ALVES, Atecla; RODRIGUES, Andresa; GOMES, Larissa; MADUREIRA, Guiomar; MENDONCA, Berenice; BACHEGA, Tania- Molecular CYP21A2 diagnosis in 480 Brazilian patients with congenital adrenal hyperplasia before newborn screening introduction(2016) CARVALHO, Daniel F. de; MIRANDA, Mirela C.; GOMES, Larissa G.; MADUREIRA, Guiomar; MARCONDES, Jose A. M.; BILLERBECK, Ana Elisa C.; RODRIGUES, Andresa S.; PRESTI, Paula F.; KUPERMAN, Hilton; DAMIANI, Durval; MENDONCA, Berenice B.; BACHEGA, Tania A. S. S.Background: Most congenital adrenal hyperplasia (CAH) patients carry CYP21A2 mutations derived from conversion events involving the pseudogene, and the remaining carry new mutations. Objective: To review causal mutations and genotype-phenotype correlation in 480 Brazilian patients. Methods: DNA was extracted from 158 salt-wasters (SWs), 116 simple virilizing (SV), and 206 nonclassical (NC) patients. Fourteen point mutations were screened by allele-specific PCR, large rearrangements by Southern blotting/MLPA, and sequencing was performed in those with incomplete genotype. The gene founder effect was analyzed by microsatellite studies. Patients were divided into six genotypes (Null; A: < 2%; B: 3-7%; C: > 20% of residual enzymatic activity (EA); D: unknown EA; E: incomplete genotype). Results: Targeted methodologies defined genotype in 87.6% of classical and in 80% of NC patients and the addition of sequencing in 100 and 83.5%, respectively. The most frequent mutations were p. V281L (26.6% of alleles), IVS2-13A/C> G (21.1%), and p. I172N (7.5%); seven rare mutations and one novel mutation (p. E351V) were identified. Gene founder effect was observed in all but one (p. W19X) mutation. Null, A, B, and C genotypes correlated with SW (88%), SW (70%), SV (98%), and NC forms (100%), respectively. In group D, the p. E351V mutation correlated with classical form and group E comprised exclusively NC-patients. ACTH-stimulated 17OHP level of 44.3 ng/mL was the best cutoff to identify NC-patients carrying severe mutations. Conclusions: We identified a good genotype-phenotype correlation in CAH, providing useful data regarding prediction of disease ' s severity; moreover, we suggest that ACTH-stimulated 17OHP levels could predict carrier status for severe mutations. Sequencing is essential to optimize molecular diagnosis in Brazilian CAH patients.